A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1151701



Internal ID15854547
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25268441..25514700hg38UCSC Ensembl
Innerchr22:25664408..25910667hg19UCSC Ensembl
Innerchr22:23994408..24240667hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38246260
hg19246260
hg18246260
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv588800
Supporting Variants
Samples1780862196_A
Known GenesCRYBB2P1, IGLL3P, LRP5L, MIR6817
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1151701
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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